OMIA group 831

Retinal atrophy, progressive, X-linked, type 1

The chain reaches the human disease retinitis pigmentosa 3, which Mondo defines as: “Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.” It reaches 2 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 1 species entry marked as a defect.
Human disease

Reached

3 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

2 Open Targets associations, with a best score of 0.71.
Drugs

Stopped here

No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

retinitis pigmentosa 3

53.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.71	24.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

X-linked cone-rod dystrophy 1

52.3 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.67	23.3 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

macular degeneration, X-linked atrophic

29.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog Naturally occurring, and also genetically engineered.	Canis lupus familiaris	OMIA:000831-9615	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	RPGR retinitis pigmentosa GTPase regulator NCBI Gene 403726	RPGR Ensembl	one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0010443	macular degeneration, X-linked atrophic	OMIA's OMIM numbers
MONDO:0010227	retinitis pigmentosa 3 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.	OMIA's OMIM numbers
MONDO:0010566	X-linked cone-rod dystrophy 1	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
RPGR	retinitis pigmentosa 3	0.71	287	Genetic association 0.94 Animal model 0.68 Genetic literature 0.61 Literature 0.16
RPGR	X-linked cone-rod dystrophy 1	0.67	69	Genetic association 0.93 Animal model 0.69 Genetic literature 0.61 Literature 0.07

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.